Characterization of human disease phenotypes associated with mutations in
              TREX1
              ,
              RNASEH2A
              ,
              RNASEH2B
              ,
              RNASEH2C
              ,
              SAMHD1
              ,
              ADAR
              , and
              IFIH1

Yanick J. Crow; Diana S. Chase; Johanna Lowenstein Schmidt; Marcin Szynkiewicz; Gabriella M.a. Forte; Hannah L. Gornall; Anthony Oojageer; Beverley Anderson; Amy Pizzino; Guy Helman; Mohamed S. Abdel-hamid; Ghada M. Abdel-salam; Sam Ackroyd; Alec Aeby; Guillermo Agosta; Catherine Albin; Stavit Allon-shalev; Montse Arellano; Giada Ariaudo; Vijay Aswani; Riyana Babul-hirji; Eileen M. Baildam; Nadia Bahi-buisson; Kathryn M. Bailey; Christine Barnerias; Magalie Barth; Roberta Battini; Michael W. Beresford; Geneviève Bernard; Marika Bianchi; Thierry Billette De Villemeur; Edward M. Blair; Miriam Bloom; Alberto B. Burlina; Maria Luisa Carpanelli; Daniel R. Carvalho; Manuel Castro-gago; Anna Cavallini; Cristina Cereda; Kate E. Chandler; David A. Chitayat; Abigail E. Collins; Concepcion Sierra Corcoles; Nuno J.v. Cordeiro; Giovanni Crichiutti; Lyvia Dabydeen; Russell C. Dale; Stefano D′arrigo; Christian G.e.l. De Goede; Corinne De Laet; Liesbeth M.h. De Waele; Ines Denzler; Isabelle Desguerre; Koenraad Devriendt; Maja Di Rocco; Michael C. Fahey; Elisa Fazzi; Colin D. Ferrie; António Figueiredo; Blanca Gener; Cyril Goizet; Nirmala R. Gowrinathan; Kalpana Gowrishankar; Donncha Hanrahan; Bertrand Isidor; Bülent Kara; Nasaim Khan; Mary D. King; Edwin P. Kirk; Ram Kumar; Lieven Lagae; Pierre Landrieu; Heinz Lauffer; Vincent Laugel; Roberta La Piana; Ming J. Lim; Jean-pierre S.-m. Lin; Tarja Linnankivi; Mark T. Mackay; Daphna R. Marom; Charles Marques Lourenço; Shane A. Mckee; Isabella Moroni; Jenny E.v. Morton; Marie-laure Moutard; Kevin Murray; Rima Nabbout; Sheela Nampoothiri; Noemi Nunez-enamorado; Patrick J. Oades; Ivana Olivieri; John R. Ostergaard; Belén Pérez-dueñas; Julie S. Prendiville; Venkateswaran Ramesh; Magnhild Rasmussen; Luc Régal; Federica Ricci; Marlène Rio; Diana Rodriguez; Agathe Roubertie; Elisabetta Salvatici; Karin A. Segers; Gyanranjan P. Sinha; Doriette Soler; Ronen Spiegel; Tommy I. Stödberg; Rachel Straussberg; Kathryn J. Swoboda; Mohnish Suri; Uta Tacke; Tiong Y. Tan; Johann Te Water Naude; Keng Wee Teik; Maya Mary Thomas; Marianne Till; Davide Tonduti; Enza Maria Valente; Rudy Noel Van Coster; Marjo S. Van Der Knaap; Grace Vassallo; Raymon Vijzelaar; Julie Vogt; Geoffrey B. Wallace; Evangeline Wassmer; Hannah J. Webb; William P. Whitehouse; Robyn N. Whitney; Maha S. Zaki; Sameer M. Zuberi; John H. Livingston; Flore Rozenberg; Pierre Lebon; Adeline Vanderver; Simona Orcesi; Gillian I. Rice

doi:10.1002/ajmg.a.36887

Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1

Yanick J. Crow, Diana S. Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella M.a. Forte, Hannah L. Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel-hamid, Ghada M. Abdel-salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine Albin, Stavit Allon-shalev, Montse Arellano, Giada Ariaudo, Vijay AswaniRiyana Babul-hirji, Eileen M. Baildam, Nadia Bahi-buisson, Kathryn M. Bailey, Christine Barnerias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette De Villemeur, Edward M. Blair, Miriam Bloom, Alberto B. Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro-gago, Anna Cavallini, Cristina Cereda, Kate E. Chandler, David A. Chitayat, Abigail E. Collins, Concepcion Sierra Corcoles, Nuno J.v. Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D′arrigo, Christian G.e.l. De Goede, Corinne De Laet, Liesbeth M.h. De Waele, Ines Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael C. Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala R. Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Nasaim Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, Pierre Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming J. Lim, Jean-pierre S.-m. Lin, Tarja Linnankivi, Mark T. Mackay, Daphna R. Marom, Charles Marques Lourenço, Shane A. Mckee, Isabella Moroni, Jenny E.v. Morton, Marie-laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemi Nunez-enamorado, Patrick J. Oades, Ivana Olivieri, John R. Ostergaard, Belén Pérez-dueñas, Julie S. Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez, Agathe Roubertie, Elisabetta Salvatici, Karin A. Segers, Gyanranjan P. Sinha, Doriette Soler, Ronen Spiegel, Tommy I. Stödberg, Rachel Straussberg, Kathryn J. Swoboda, Mohnish Suri, Uta Tacke, Tiong Y. Tan, Johann Te Water Naude, Keng Wee Teik, Maya Mary Thomas, Marianne Till, Davide Tonduti, Enza Maria Valente, Rudy Noel Van Coster, Marjo S. Van Der Knaap, Grace Vassallo, Raymon Vijzelaar, Julie Vogt, Geoffrey B. Wallace, Evangeline Wassmer, Hannah J. Webb, William P. Whitehouse, Robyn N. Whitney, Maha S. Zaki, Sameer M. Zuberi, John H. Livingston, Flore Rozenberg, Pierre Lebon, Adeline Vanderver, Simona Orcesi, Gillian I. Rice

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	296-312
Journal	The American Journal of Medical Genetics - Part A (AJMG)
Volume	167
Issue number	2
Early online date	16 Jan 2015
DOIs	https://doi.org/10.1002/ajmg.a.36887
Publication status	Published - 1 Feb 2015

Access to Document

10.1002/ajmg.a.36887

http://doi.wiley.com/10.1002/ajmg.a.36887

Cite this

Crow, Y. J., Chase, D. S., Lowenstein Schmidt, J., Szynkiewicz, M., Forte, G. M. A., Gornall, H. L., Oojageer, A., Anderson, B., Pizzino, A., Helman, G., Abdel-hamid, M. S., Abdel-salam, G. M., Ackroyd, S., Aeby, A., Agosta, G., Albin, C., Allon-shalev, S., Arellano, M., Ariaudo, G., ... Rice, G. I. (2015). Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1. The American Journal of Medical Genetics - Part A (AJMG), 167(2), 296-312. https://doi.org/10.1002/ajmg.a.36887

Crow, Yanick J. ; Chase, Diana S. ; Lowenstein Schmidt, Johanna et al. / Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1. In: The American Journal of Medical Genetics - Part A (AJMG). 2015 ; Vol. 167, No. 2. pp. 296-312.

@article{6a37d038dc8f4c09aaf0f197d6a9df3d,

title = "Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1",

author = "Crow, {Yanick J.} and Chase, {Diana S.} and {Lowenstein Schmidt}, Johanna and Marcin Szynkiewicz and Forte, {Gabriella M.a.} and Gornall, {Hannah L.} and Anthony Oojageer and Beverley Anderson and Amy Pizzino and Guy Helman and Abdel-hamid, {Mohamed S.} and Abdel-salam, {Ghada M.} and Sam Ackroyd and Alec Aeby and Guillermo Agosta and Catherine Albin and Stavit Allon-shalev and Montse Arellano and Giada Ariaudo and Vijay Aswani and Riyana Babul-hirji and Baildam, {Eileen M.} and Nadia Bahi-buisson and Bailey, {Kathryn M.} and Christine Barnerias and Magalie Barth and Roberta Battini and Beresford, {Michael W.} and Genevi{\`e}ve Bernard and Marika Bianchi and {Billette De Villemeur}, Thierry and Blair, {Edward M.} and Miriam Bloom and Burlina, {Alberto B.} and {Luisa Carpanelli}, Maria and Carvalho, {Daniel R.} and Manuel Castro-gago and Anna Cavallini and Cristina Cereda and Chandler, {Kate E.} and Chitayat, {David A.} and Collins, {Abigail E.} and {Sierra Corcoles}, Concepcion and Cordeiro, {Nuno J.v.} and Giovanni Crichiutti and Lyvia Dabydeen and Dale, {Russell C.} and Stefano D′arrigo and {De Goede}, {Christian G.e.l.} and {De Laet}, Corinne and {De Waele}, {Liesbeth M.h.} and Ines Denzler and Isabelle Desguerre and Koenraad Devriendt and {Di Rocco}, Maja and Fahey, {Michael C.} and Elisa Fazzi and Ferrie, {Colin D.} and Ant{\'o}nio Figueiredo and Blanca Gener and Cyril Goizet and Gowrinathan, {Nirmala R.} and Kalpana Gowrishankar and Donncha Hanrahan and Bertrand Isidor and B{\"u}lent Kara and Nasaim Khan and King, {Mary D.} and Kirk, {Edwin P.} and Ram Kumar and Lieven Lagae and Pierre Landrieu and Heinz Lauffer and Vincent Laugel and Piana, {Roberta La} and Lim, {Ming J.} and Lin, {Jean-pierre S.-m.} and Tarja Linnankivi and Mackay, {Mark T.} and Marom, {Daphna R.} and {Marques Louren{\c c}o}, Charles and Mckee, {Shane A.} and Isabella Moroni and Morton, {Jenny E.v.} and Marie-laure Moutard and Kevin Murray and Rima Nabbout and Sheela Nampoothiri and Noemi Nunez-enamorado and Oades, {Patrick J.} and Ivana Olivieri and Ostergaard, {John R.} and Bel{\'e}n P{\'e}rez-due{\~n}as and Prendiville, {Julie S.} and Venkateswaran Ramesh and Magnhild Rasmussen and Luc R{\'e}gal and Federica Ricci and Marl{\`e}ne Rio and Diana Rodriguez and Agathe Roubertie and Elisabetta Salvatici and Segers, {Karin A.} and Sinha, {Gyanranjan P.} and Doriette Soler and Ronen Spiegel and St{\"o}dberg, {Tommy I.} and Rachel Straussberg and Swoboda, {Kathryn J.} and Mohnish Suri and Uta Tacke and Tan, {Tiong Y.} and {Te Water Naude}, Johann and {Wee Teik}, Keng and {Mary Thomas}, Maya and Marianne Till and Davide Tonduti and {Maria Valente}, Enza and {Noel Van Coster}, Rudy and {Van Der Knaap}, {Marjo S.} and Grace Vassallo and Raymon Vijzelaar and Julie Vogt and Wallace, {Geoffrey B.} and Evangeline Wassmer and Webb, {Hannah J.} and Whitehouse, {William P.} and Whitney, {Robyn N.} and Zaki, {Maha S.} and Zuberi, {Sameer M.} and Livingston, {John H.} and Flore Rozenberg and Pierre Lebon and Adeline Vanderver and Simona Orcesi and Rice, {Gillian I.}",

year = "2015",

month = feb,

day = "1",

doi = "10.1002/ajmg.a.36887",

language = "English",

volume = "167",

pages = "296--312",

journal = "The American Journal of Medical Genetics - Part A (AJMG)",

issn = "1552-4825",

publisher = "Wiley",

number = "2",

}

Crow, YJ, Chase, DS, Lowenstein Schmidt, J, Szynkiewicz, M, Forte, GMA, Gornall, HL, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-hamid, MS, Abdel-salam, GM, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-hirji, R, Baildam, EM, Bahi-buisson, N, Bailey, KM, Barnerias, C, Barth, M, Battini, R, Beresford, MW, Bernard, G, Bianchi, M, Billette De Villemeur, T, Blair, EM, Bloom, M, Burlina, AB, Luisa Carpanelli, M, Carvalho, DR, Castro-gago, M, Cavallini, A, Cereda, C, Chandler, KE, Chitayat, DA, Collins, AE, Sierra Corcoles, C, Cordeiro, NJV, Crichiutti, G, Dabydeen, L, Dale, RC, D′arrigo, S, De Goede, CGEL, De Laet, C, De Waele, LMH, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, MC, Fazzi, E, Ferrie, CD, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, NR, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, B, Khan, N, King, MD, Kirk, EP, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, Piana, RL, Lim, MJ, Lin, JS, Linnankivi, T, Mackay, MT, Marom, DR, Marques Lourenço, C, Mckee, SA, Moroni, I, Morton, JEV, Moutard, M, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-enamorado, N, Oades, PJ, Olivieri, I, Ostergaard, JR, Pérez-dueñas, B, Prendiville, JS, Ramesh, V, Rasmussen, M, Régal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, KA, Sinha, GP, Soler, D, Spiegel, R, Stödberg, TI, Straussberg, R, Swoboda, KJ, Suri, M, Tacke, U, Tan, TY, Te Water Naude, J, Wee Teik, K, Mary Thomas, M, Till, M, Tonduti, D, Maria Valente, E, Noel Van Coster, R, Van Der Knaap, MS, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, GB, Wassmer, E, Webb, HJ, Whitehouse, WP, Whitney, RN, Zaki, MS, Zuberi, SM, Livingston, JH, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S & Rice, GI 2015, 'Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1', The American Journal of Medical Genetics - Part A (AJMG), vol. 167, no. 2, pp. 296-312. https://doi.org/10.1002/ajmg.a.36887

Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1. / Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna et al.
In: The American Journal of Medical Genetics - Part A (AJMG), Vol. 167, No. 2, 01.02.2015, p. 296-312.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1

AU - Crow, Yanick J.

AU - Chase, Diana S.

AU - Lowenstein Schmidt, Johanna

AU - Szynkiewicz, Marcin

AU - Forte, Gabriella M.a.

AU - Gornall, Hannah L.

AU - Oojageer, Anthony

AU - Anderson, Beverley

AU - Pizzino, Amy

AU - Helman, Guy

AU - Abdel-hamid, Mohamed S.

AU - Abdel-salam, Ghada M.

AU - Ackroyd, Sam

AU - Aeby, Alec

AU - Agosta, Guillermo

AU - Albin, Catherine

AU - Allon-shalev, Stavit

AU - Arellano, Montse

AU - Ariaudo, Giada

AU - Aswani, Vijay

AU - Babul-hirji, Riyana

AU - Baildam, Eileen M.

AU - Bahi-buisson, Nadia

AU - Bailey, Kathryn M.

AU - Barnerias, Christine

AU - Barth, Magalie

AU - Battini, Roberta

AU - Beresford, Michael W.

AU - Bernard, Geneviève

AU - Bianchi, Marika

AU - Billette De Villemeur, Thierry

AU - Blair, Edward M.

AU - Bloom, Miriam

AU - Burlina, Alberto B.

AU - Luisa Carpanelli, Maria

AU - Carvalho, Daniel R.

AU - Castro-gago, Manuel

AU - Cavallini, Anna

AU - Cereda, Cristina

AU - Chandler, Kate E.

AU - Chitayat, David A.

AU - Collins, Abigail E.

AU - Sierra Corcoles, Concepcion

AU - Cordeiro, Nuno J.v.

AU - Crichiutti, Giovanni

AU - Dabydeen, Lyvia

AU - Dale, Russell C.

AU - D′arrigo, Stefano

AU - De Goede, Christian G.e.l.

AU - De Laet, Corinne

AU - De Waele, Liesbeth M.h.

AU - Denzler, Ines

AU - Desguerre, Isabelle

AU - Devriendt, Koenraad

AU - Di Rocco, Maja

AU - Fahey, Michael C.

AU - Fazzi, Elisa

AU - Ferrie, Colin D.

AU - Figueiredo, António

AU - Gener, Blanca

AU - Goizet, Cyril

AU - Gowrinathan, Nirmala R.

AU - Gowrishankar, Kalpana

AU - Hanrahan, Donncha

AU - Isidor, Bertrand

AU - Kara, Bülent

AU - Khan, Nasaim

AU - King, Mary D.

AU - Kirk, Edwin P.

AU - Kumar, Ram

AU - Lagae, Lieven

AU - Landrieu, Pierre

AU - Lauffer, Heinz

AU - Laugel, Vincent

AU - Piana, Roberta La

AU - Lim, Ming J.

AU - Lin, Jean-pierre S.-m.

AU - Linnankivi, Tarja

AU - Mackay, Mark T.

AU - Marom, Daphna R.

AU - Marques Lourenço, Charles

AU - Mckee, Shane A.

AU - Moroni, Isabella

AU - Morton, Jenny E.v.

AU - Moutard, Marie-laure

AU - Murray, Kevin

AU - Nabbout, Rima

AU - Nampoothiri, Sheela

AU - Nunez-enamorado, Noemi

AU - Oades, Patrick J.

AU - Olivieri, Ivana

AU - Ostergaard, John R.

AU - Pérez-dueñas, Belén

AU - Prendiville, Julie S.

AU - Ramesh, Venkateswaran

AU - Rasmussen, Magnhild

AU - Régal, Luc

AU - Ricci, Federica

AU - Rio, Marlène

AU - Rodriguez, Diana

AU - Roubertie, Agathe

AU - Salvatici, Elisabetta

AU - Segers, Karin A.

AU - Sinha, Gyanranjan P.

AU - Soler, Doriette

AU - Spiegel, Ronen

AU - Stödberg, Tommy I.

AU - Straussberg, Rachel

AU - Swoboda, Kathryn J.

AU - Suri, Mohnish

AU - Tacke, Uta

AU - Tan, Tiong Y.

AU - Te Water Naude, Johann

AU - Wee Teik, Keng

AU - Mary Thomas, Maya

AU - Till, Marianne

AU - Tonduti, Davide

AU - Maria Valente, Enza

AU - Noel Van Coster, Rudy

AU - Van Der Knaap, Marjo S.

AU - Vassallo, Grace

AU - Vijzelaar, Raymon

AU - Vogt, Julie

AU - Wallace, Geoffrey B.

AU - Wassmer, Evangeline

AU - Webb, Hannah J.

AU - Whitehouse, William P.

AU - Whitney, Robyn N.

AU - Zaki, Maha S.

AU - Zuberi, Sameer M.

AU - Livingston, John H.

AU - Rozenberg, Flore

AU - Lebon, Pierre

AU - Vanderver, Adeline

AU - Orcesi, Simona

AU - Rice, Gillian I.

PY - 2015/2/1

Y1 - 2015/2/1

U2 - 10.1002/ajmg.a.36887

DO - 10.1002/ajmg.a.36887

M3 - Article

SN - 1552-4825

VL - 167

SP - 296

EP - 312

JO - The American Journal of Medical Genetics - Part A (AJMG)

JF - The American Journal of Medical Genetics - Part A (AJMG)

IS - 2

ER -

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GMA, Gornall HL et al. Characterization of human disease phenotypes associated with mutations in TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR , and IFIH1. The American Journal of Medical Genetics - Part A (AJMG). 2015 Feb 1;167(2):296-312. Epub 2015 Jan 16. doi: 10.1002/ajmg.a.36887